Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33883 | 101872;101873;101874 | chr2:178534968;178534967;178534966 | chr2:179399695;179399694;179399693 |
| N2AB | 32242 | 96949;96950;96951 | chr2:178534968;178534967;178534966 | chr2:179399695;179399694;179399693 |
| N2A | 31315 | 94168;94169;94170 | chr2:178534968;178534967;178534966 | chr2:179399695;179399694;179399693 |
| N2B | 24818 | 74677;74678;74679 | chr2:178534968;178534967;178534966 | chr2:179399695;179399694;179399693 |
| Novex-1 | 24943 | 75052;75053;75054 | chr2:178534968;178534967;178534966 | chr2:179399695;179399694;179399693 |
| Novex-2 | 25010 | 75253;75254;75255 | chr2:178534968;178534967;178534966 | chr2:179399695;179399694;179399693 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 71
- Q(SASA): 0.4389
- Predicted PPI site: N
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs1329397426  |
-0.689 | None | N | None | 0.63 | 0.54495600586 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs1329397426 |
-0.689 | None | N | None | 0.63 | 0.54495600586 | gnomAD-4.0.0 | 1.59281E-06 | None | None | None | None | N | None | 5.66187E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | None | None | None | N | None | 0.457 | 0.410469974859 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.44 | ambiguous | 0.4231 | ambiguous | -0.426 | Destabilizing | None | None | None | None | N | 0.504467433 | None | None | N |
| E/C | 0.9449 | likely_pathogenic | 0.9469 | pathogenic | -0.049 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.2153 | likely_benign | 0.2686 | benign | -0.377 | Destabilizing | None | None | None | None | N | 0.47166436899999997 | None | None | N |
| E/F | 0.943 | likely_pathogenic | 0.9417 | pathogenic | -0.153 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.475 | ambiguous | 0.4636 | ambiguous | -0.656 | Destabilizing | None | None | None | None | N | 0.501038788 | None | None | N |
| E/H | 0.787 | likely_pathogenic | 0.7703 | pathogenic | None | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.809 | likely_pathogenic | 0.7925 | pathogenic | 0.158 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.5721 | likely_pathogenic | 0.5126 | ambiguous | 0.384 | Stabilizing | None | None | None | None | N | 0.482668009 | None | None | N |
| E/L | 0.8159 | likely_pathogenic | 0.8043 | pathogenic | 0.158 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.8655 | likely_pathogenic | 0.8613 | pathogenic | 0.281 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.5635 | ambiguous | 0.5948 | pathogenic | -0.103 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.904 | likely_pathogenic | 0.9113 | pathogenic | -0.016 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.3633 | ambiguous | 0.3232 | benign | -0.026 | Destabilizing | None | None | None | None | N | 0.462274094 | None | None | N |
| E/R | 0.6515 | likely_pathogenic | 0.5886 | pathogenic | 0.572 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.4198 | ambiguous | 0.4115 | ambiguous | -0.241 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.5705 | likely_pathogenic | 0.557 | ambiguous | -0.039 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.6161 | likely_pathogenic | 0.5989 | pathogenic | -0.016 | Destabilizing | None | None | None | None | N | 0.497792177 | None | None | N |
| E/W | 0.9798 | likely_pathogenic | 0.9803 | pathogenic | 0.055 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.8966 | likely_pathogenic | 0.8967 | pathogenic | 0.111 | Stabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.